M S-medecine SciencesPub Date : 2024-12-01Epub Date: 2024-12-20DOI: 10.1051/medsci/2024179
Julie Chaumeil, Céline Morey
{"title":"[X chromosome regulation and female functional specificities: Are two Xs better than one?]","authors":"Julie Chaumeil, Céline Morey","doi":"10.1051/medsci/2024179","DOIUrl":"https://doi.org/10.1051/medsci/2024179","url":null,"abstract":"<p><p>What if the presence of two X chromosomes confers functional specificities on female cells and contributes to the different susceptibilites of men and women to certain diseases? One of the X chromosomes is randomly silenced in each female cell from the embryonic stage, theoretically making the sexes equal. This silencing of the X chromosome is a unique epigenetic process, affecting an entire chromosome and resulting in mosaic expression of X-linked genes throughout the body. However, some genes escape this process and X-inactivation appears to be somewhat labile in certain cell types. What are the physiological implications of these observations? This question is beginning to be explored, particularly in the immune and nervous systems, where several pathologies have sexual bias.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"935-946"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-12-01Epub Date: 2024-12-20DOI: 10.1051/medsci/2024174
Jeanne Neuffer, Cécilia Samieri
{"title":"[Regardless of genetic susceptibility to Alzheimer's disease, a better lifestyle is associated with a lower risk of dementia and less cognitive decline].","authors":"Jeanne Neuffer, Cécilia Samieri","doi":"10.1051/medsci/2024174","DOIUrl":"https://doi.org/10.1051/medsci/2024174","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"988-990"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-12-01Epub Date: 2024-12-20DOI: 10.1051/medsci/2024165
Régis Nouvian
{"title":"[Two is better than one: CaBP1 and CaBP2 control calcium signaling in auditory inner hair cells].","authors":"Régis Nouvian","doi":"10.1051/medsci/2024165","DOIUrl":"https://doi.org/10.1051/medsci/2024165","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"971-972"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-12-01Epub Date: 2024-12-20DOI: 10.1051/medsci/2024169
Emmanuel Martin, Sylvain Latour
{"title":"[Interleukin 27: a key factor of the immune response to Epstein-Barr virus].","authors":"Emmanuel Martin, Sylvain Latour","doi":"10.1051/medsci/2024169","DOIUrl":"https://doi.org/10.1051/medsci/2024169","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"982-985"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-12-01Epub Date: 2024-12-20DOI: 10.1051/medsci/2024171
Céline Bon
{"title":"[Paleoepigenetics: when DNA damages become epigenetic traces].","authors":"Céline Bon","doi":"10.1051/medsci/2024171","DOIUrl":"https://doi.org/10.1051/medsci/2024171","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"965-970"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-12-01Epub Date: 2024-12-20DOI: 10.1051/medsci/2024175
Laurent Loison
{"title":"[A Second Look at the Origins of the Concept of Epigenetics'].","authors":"Laurent Loison","doi":"10.1051/medsci/2024175","DOIUrl":"10.1051/medsci/2024175","url":null,"abstract":"<p><p>Even today, 'epigenetics' is a rather difficult field to define. The explosive growth of epigenetics over the last twenty years is sometimes seen as a revolutionary event in the life sciences, a paradigm shift that would devalue genetics or the standard view of the evolutionary synthesis. The aim of this paper is to place this controversial issue in its historical context. Building on the excellent work of David Haig, I will show that in the late 1950s, the modern concept of epigenetics emerged as an extension of the nascent theory of molecular biology. Given that genetic information was assimilated to the DNA sequence, and that each cell of an organism was supposed to possess a complete genome, it was thought that certain as yet undiscovered molecular mechanisms were necessary to regulate gene expression. These hypothetical \"epigenetic systems\", which would not modify the DNA sequence, should also have heritable effect on gene expression, which would explain the stability of cell differentiation during embryogenesis.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"885-891"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Environmental exposures and epigenome changes within the first 1000 days of life].","authors":"Johanna Lepeule, Lucile Broséus, Paulina Jedynak, Chloé Masdoumier, Claire Philippat, Ariane Guilbert, Aurélie Nakamura","doi":"10.1051/medsci/2024178","DOIUrl":"https://doi.org/10.1051/medsci/2024178","url":null,"abstract":"<p><p>Early environmental exposures can have long-term effects on child's development and health. Epigenetic modifications may partly explain these effects, and studying them could lead to significant advances in our understanding of the underlying mechanisms. This review summarises recent data on epigenetic and environmental epidemiology during the first 1000 days of life for several common exposures, including tobacco, phenols and phthalates, air pollutants, ambient temperature and vegetation.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"947-954"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-12-01Epub Date: 2024-12-20DOI: 10.1051/medsci/2024170
Pierre Mangeol, Dominique Massey-Harroche, Michael Sebbagh, Fabrice Richard, Pierre-François Lenne, André Le Bivic
{"title":"[Zonula adherens matura: A new intestinal cell junction].","authors":"Pierre Mangeol, Dominique Massey-Harroche, Michael Sebbagh, Fabrice Richard, Pierre-François Lenne, André Le Bivic","doi":"10.1051/medsci/2024170","DOIUrl":"https://doi.org/10.1051/medsci/2024170","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"985-988"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-12-01Epub Date: 2024-12-20DOI: 10.1051/medsci/2024181
Maud de Dieuleveult, Guillaume Velasco
{"title":"[Genetic diseases of epigenetic machinery].","authors":"Maud de Dieuleveult, Guillaume Velasco","doi":"10.1051/medsci/2024181","DOIUrl":"https://doi.org/10.1051/medsci/2024181","url":null,"abstract":"<p><p>The development of sequencing technologies and their increased accessibility in clinical services and genetic laboratories have considerably accelerated the identification of genetic variants associated with rare diseases (RDs). Among these, Mendelian disorders of the epigenetic machinery (MDEM) are rare monogenic diseases characterized by the presence of mutations in genes encoding epigenetic regulators that play a key role in organismal development and cellular functions. Loss of function of these regulators is expected to lead to epigenetic modifications that profoundly affect genome expression and cellular identity. Disruptions in DNA methylation profiles have been documented in MDEMs, emerging as a useful diagnostic tool. The current challenge is to determine whether and how these epigenomic alterations drive the mechanisms underlying the clinical manifestations in patients suffering from this class of diseases. Studying MDEMs may therefore shed light on the important role of epigenetic information in health and disease, particularly the mechanisms involved in the development and understanding of complex pathologies, such as neurodevelopmental disorders and cancer.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 12","pages":"914-924"},"PeriodicalIF":0.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M S-medecine SciencesPub Date : 2024-11-01Epub Date: 2024-12-10DOI: 10.1051/medsci/2024158
Maya Law-Pois, Sophie Dupré-Crochet
{"title":"[EROS, a crucial chaperone for NADPH oxidase and the P2X7 receptor].","authors":"Maya Law-Pois, Sophie Dupré-Crochet","doi":"10.1051/medsci/2024158","DOIUrl":"https://doi.org/10.1051/medsci/2024158","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"882-884"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}